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Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.

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Title: Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.
Authors: Aranda S; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain., Ribeiro-Constante J; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain; Medicina i Recerca Translacional, Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona, Carrer de Casanova, 143, 08036, Barcelona, Spain. Electronic address: juliana.ribeiro@sjd.es., Tristán-Noguero A; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain; Molecular Physiology of the Synapse, Institut de Recerca Sant Pau (IR SANT PAU), Universitat Autònoma Barcelona, Barcelona, Spain., Moreno-Ruiz N; Institut de Biologia Evolutiva (UPF-CSIC), Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain., Arenas C; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain., Martínez Calvo FF; Pediatric Neurology Department, Hospital Universitario Miguel Servet, Zaragoza, Spain., Ibáñez-Micó S; Pediatric Neurology Department, Arrixaca University Hospital, Murcia, Spain., Peña Segura JL; Pediatric Neurology Department, Hospital Universitario Miguel Servet, Zaragoza, Spain., Ramos-Fernández JM; Pediatric Neurology Department - IBIMA Group, Hospital Regional Universitario de Málaga, Málaga, Spain., Moyano Chicano MDC; Pediatric Neurology Department - IBIMA Group, Hospital Regional Universitario de Málaga, Málaga, Spain., Camino León R; Pediatric Neurology Department, Hospital Universitario Reina Sofía, Córdoba, Spain., Soto-Insuga V; Pediatric Neurology Department, Hospital Universitario Infantil del Niño Jesús, Madrid, Spain., González-Alguacil E; Pediatric Neurology Department, Hospital Universitario Infantil del Niño Jesús, Madrid, Spain., Valera Dávila C; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain., Fernández-Jaén A; Pediatric Neurology Department, Neurogenetics Section, Hospital Universitario Quironsalud, Madrid, Spain., Plans L; Mental Health in Intellectual Disability Specialized Service Althaia, Xarxa Assistencial, Manresa, Spain; Vic-Central University of Catalonia, Institut de Recerca i Innovació en Ciències de la Vida i de la Salut a la Catalunya Central, Vic, Spain., Camacho A; Pediatric Neurology Department, Hospital 12 de Octubre, Universidad Complutense de Madrid, Madrid, Spain., Visa-Reñé N; Pediatric Department, Arnau de Vilanova University Hospital, Lleida, Spain., Martín-Tamayo Blázquez MDP; Pediatric Neurology Department, Hospital General Universitario de Jerez de la Frontera, Jerez de la Frontera, Spain., Paredes-Carmona F; Pediatrics Department, Arnau de Vilanova University Hospital, Lleida, Spain., Marti-Carrera I; Pediatric Neurology Department, Hospital Universitario Donostia, University of the Basque Country UPV/EHU, Biogipuzkoa Health Research institute, San Sebastian, Spain., Ginot-Julià G; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain., Hernández-Fabián A; Pediatric Neurology Department, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain., Tomàs Daví M; Mental Health in Intellectual Disability Specialized Service Althaia, Xarxa Assistencial, Manresa, Spain., Casadesús Sànchez M; Mental Health in Intellectual Disability Specialized Service Althaia, Xarxa Assistencial, Manresa, Spain., Cuesta Herraiz L; Pediatric Neurology Department, Hospital de Manises, Valencia, Spain., Fuentes Pita P; Pediatric Neurology Department, Hospital Clínico Universitario Santiago de Compostela, Santiago de Compostela, Spain., Bermejo González T; Pediatric Neurology Department, Neurolinkia, Sevilla, Spain., O'Callaghan M; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain., Iglesias Santa Polonia FF; Neurology Department, Hospital Universitario de Burgos, Burgos, Spain., Cazorla MR; Pediatric Neurology Department, Puerta de Hierro Majadahonda Universitary Hospital, Madrid, Spain., Ferrando Lucas MT; Pediatric Neurology Department, Neurogenetics Section, Hospital Universitario Quironsalud, Madrid, Spain., González-Meneses A; Pediatric Department Hospital, Universitario Virgen del Rocío, Sevilla, Spain., Sala-Coromina J; Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Barcelona, Spain., Macaya A; Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Barcelona, Spain., Lasa-Aranzasti A; Department of Clinical and Molecular Genetic Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Barcelona, Spain., Cueto-González AM; Department of Clinical and Molecular Genetic Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Barcelona, Spain., Párraga FV; Pediatric Neurology Department, Arrixaca University Hospital, Murcia, Spain., Plana JC; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain., Serrano M; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain., Alonso X; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain., Valenzuela Palafoll MI; Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Barcelona, Spain; Department of Clinical and Molecular Genetic Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Barcelona, Spain., Monteagudo E; Pediatric Neurology Department, Hospital Clínico Universitario Santiago de Compostela, Santiago de Compostela, Spain., Alonso-Colmenero I; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain., Sans Capdevila O; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain., Casals F; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Catalonia, Spain., Cormand B; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Catalonia, Spain. Electronic address: bcormand@ub.edu., García-Cazorla Á; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain., Bayés À; Molecular Physiology of the Synapse, Institut de Recerca Sant Pau (IR SANT PAU), Universitat Autònoma Barcelona, Barcelona, Spain. Electronic address: abayesp@santpau.cat., Mitjans M; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Catalonia, Spain; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Instituto de Salud Carlos III, Madrid, Spain.
Source: Neurobiology of disease [Neurobiol Dis] 2026 May; Vol. 222, pp. 107357. Date of Electronic Publication: 2026 Mar 17.
Publication Type: Journal Article
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.
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  Data: <searchLink fieldCode="AU" term="%22Aranda+S%22">Aranda S</searchLink>; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Ribeiro-Constante+J%22">Ribeiro-Constante J</searchLink>; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain; Medicina i Recerca Translacional, Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona, Carrer de Casanova, 143, 08036, Barcelona, Spain. Electronic address: juliana.ribeiro@sjd.es.<br /><searchLink fieldCode="AU" term="%22Tristán-Noguero+A%22">Tristán-Noguero A</searchLink>; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain; Molecular Physiology of the Synapse, Institut de Recerca Sant Pau (IR SANT PAU), Universitat Autònoma Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Moreno-Ruiz+N%22">Moreno-Ruiz N</searchLink>; Institut de Biologia Evolutiva (UPF-CSIC), Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Arenas+C%22">Arenas C</searchLink>; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Martínez+Calvo+FF%22">Martínez Calvo FF</searchLink>; Pediatric Neurology Department, Hospital Universitario Miguel Servet, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22Ibáñez-Micó+S%22">Ibáñez-Micó S</searchLink>; Pediatric Neurology Department, Arrixaca University Hospital, Murcia, Spain.<br /><searchLink fieldCode="AU" term="%22Peña+Segura+JL%22">Peña Segura JL</searchLink>; Pediatric Neurology Department, Hospital Universitario Miguel Servet, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22Ramos-Fernández+JM%22">Ramos-Fernández JM</searchLink>; Pediatric Neurology Department - IBIMA Group, Hospital Regional Universitario de Málaga, Málaga, Spain.<br /><searchLink fieldCode="AU" term="%22Moyano+Chicano+MDC%22">Moyano Chicano MDC</searchLink>; Pediatric Neurology Department - IBIMA Group, Hospital Regional Universitario de Málaga, Málaga, Spain.<br /><searchLink fieldCode="AU" term="%22Camino+León+R%22">Camino León R</searchLink>; Pediatric Neurology Department, Hospital Universitario Reina Sofía, Córdoba, Spain.<br /><searchLink fieldCode="AU" term="%22Soto-Insuga+V%22">Soto-Insuga V</searchLink>; Pediatric Neurology Department, Hospital Universitario Infantil del Niño Jesús, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22González-Alguacil+E%22">González-Alguacil E</searchLink>; Pediatric Neurology Department, Hospital Universitario Infantil del Niño Jesús, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Valera+Dávila+C%22">Valera Dávila C</searchLink>; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Jaén+A%22">Fernández-Jaén A</searchLink>; Pediatric Neurology Department, Neurogenetics Section, Hospital Universitario Quironsalud, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Plans+L%22">Plans L</searchLink>; Mental Health in Intellectual Disability Specialized Service Althaia, Xarxa Assistencial, Manresa, Spain; Vic-Central University of Catalonia, Institut de Recerca i Innovació en Ciències de la Vida i de la Salut a la Catalunya Central, Vic, Spain.<br /><searchLink fieldCode="AU" term="%22Camacho+A%22">Camacho A</searchLink>; Pediatric Neurology Department, Hospital 12 de Octubre, Universidad Complutense de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Visa-Reñé+N%22">Visa-Reñé N</searchLink>; Pediatric Department, Arnau de Vilanova University Hospital, Lleida, Spain.<br /><searchLink fieldCode="AU" term="%22Martín-Tamayo+Blázquez+MDP%22">Martín-Tamayo Blázquez MDP</searchLink>; Pediatric Neurology Department, Hospital General Universitario de Jerez de la Frontera, Jerez de la Frontera, Spain.<br /><searchLink fieldCode="AU" term="%22Paredes-Carmona+F%22">Paredes-Carmona F</searchLink>; Pediatrics Department, Arnau de Vilanova University Hospital, Lleida, Spain.<br /><searchLink fieldCode="AU" term="%22Marti-Carrera+I%22">Marti-Carrera I</searchLink>; Pediatric Neurology Department, Hospital Universitario Donostia, University of the Basque Country UPV/EHU, Biogipuzkoa Health Research institute, San Sebastian, Spain.<br /><searchLink fieldCode="AU" term="%22Ginot-Julià+G%22">Ginot-Julià G</searchLink>; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Hernández-Fabián+A%22">Hernández-Fabián A</searchLink>; Pediatric Neurology Department, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.<br /><searchLink fieldCode="AU" term="%22Tomàs+Daví+M%22">Tomàs Daví M</searchLink>; Mental Health in Intellectual Disability Specialized Service Althaia, Xarxa Assistencial, Manresa, Spain.<br /><searchLink fieldCode="AU" term="%22Casadesús+Sànchez+M%22">Casadesús Sànchez M</searchLink>; Mental Health in Intellectual Disability Specialized Service Althaia, Xarxa Assistencial, Manresa, Spain.<br /><searchLink fieldCode="AU" term="%22Cuesta+Herraiz+L%22">Cuesta Herraiz L</searchLink>; Pediatric Neurology Department, Hospital de Manises, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Fuentes+Pita+P%22">Fuentes Pita P</searchLink>; Pediatric Neurology Department, Hospital Clínico Universitario Santiago de Compostela, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Bermejo+González+T%22">Bermejo González T</searchLink>; Pediatric Neurology Department, Neurolinkia, Sevilla, Spain.<br /><searchLink fieldCode="AU" term="%22O'Callaghan+M%22">O'Callaghan M</searchLink>; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Iglesias+Santa+Polonia+FF%22">Iglesias Santa Polonia FF</searchLink>; Neurology Department, Hospital Universitario de Burgos, Burgos, Spain.<br /><searchLink fieldCode="AU" term="%22Cazorla+MR%22">Cazorla MR</searchLink>; Pediatric Neurology Department, Puerta de Hierro Majadahonda Universitary Hospital, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ferrando+Lucas+MT%22">Ferrando Lucas MT</searchLink>; Pediatric Neurology Department, Neurogenetics Section, Hospital Universitario Quironsalud, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22González-Meneses+A%22">González-Meneses A</searchLink>; Pediatric Department Hospital, Universitario Virgen del Rocío, Sevilla, Spain.<br /><searchLink fieldCode="AU" term="%22Sala-Coromina+J%22">Sala-Coromina J</searchLink>; Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Macaya+A%22">Macaya A</searchLink>; Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Lasa-Aranzasti+A%22">Lasa-Aranzasti A</searchLink>; Department of Clinical and Molecular Genetic Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Cueto-González+AM%22">Cueto-González AM</searchLink>; Department of Clinical and Molecular Genetic Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Párraga+FV%22">Párraga FV</searchLink>; Pediatric Neurology Department, Arrixaca University Hospital, Murcia, Spain.<br /><searchLink fieldCode="AU" term="%22Plana+JC%22">Plana JC</searchLink>; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Serrano+M%22">Serrano M</searchLink>; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Alonso+X%22">Alonso X</searchLink>; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Valenzuela+Palafoll+MI%22">Valenzuela Palafoll MI</searchLink>; Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Barcelona, Spain; Department of Clinical and Molecular Genetic Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Monteagudo+E%22">Monteagudo E</searchLink>; Pediatric Neurology Department, Hospital Clínico Universitario Santiago de Compostela, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Alonso-Colmenero+I%22">Alonso-Colmenero I</searchLink>; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Sans+Capdevila+O%22">Sans Capdevila O</searchLink>; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Casals+F%22">Casals F</searchLink>; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Cormand+B%22">Cormand B</searchLink>; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Catalonia, Spain. Electronic address: bcormand@ub.edu.<br /><searchLink fieldCode="AU" term="%22García-Cazorla+Á%22">García-Cazorla Á</searchLink>; Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Bayés+À%22">Bayés À</searchLink>; Molecular Physiology of the Synapse, Institut de Recerca Sant Pau (IR SANT PAU), Universitat Autònoma Barcelona, Barcelona, Spain. Electronic address: abayesp@santpau.cat.<br /><searchLink fieldCode="AU" term="%22Mitjans+M%22">Mitjans M</searchLink>; Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Catalonia, Spain; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Instituto de Salud Carlos III, Madrid, Spain.
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  Data: <searchLink fieldCode="JN" term="%229500169%22">Neurobiology of disease</searchLink> [Neurobiol Dis] 2026 May; Vol. 222, pp. 107357. <i>Date of Electronic Publication: </i>2026 Mar 17.
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          Name:
            NameFull: Cueto-González AM
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          Name:
            NameFull: Párraga FV
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          Name:
            NameFull: Plana JC
      – PersonEntity:
          Name:
            NameFull: Serrano M
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          Name:
            NameFull: Alonso X
      – PersonEntity:
          Name:
            NameFull: Valenzuela Palafoll MI
      – PersonEntity:
          Name:
            NameFull: Monteagudo E
      – PersonEntity:
          Name:
            NameFull: Alonso-Colmenero I
      – PersonEntity:
          Name:
            NameFull: Sans Capdevila O
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          Name:
            NameFull: Casals F
      – PersonEntity:
          Name:
            NameFull: Cormand B
      – PersonEntity:
          Name:
            NameFull: García-Cazorla Á
      – PersonEntity:
          Name:
            NameFull: Bayés À
      – PersonEntity:
          Name:
            NameFull: Mitjans M
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: 2026 May
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1095-953X
          Numbering:
            – Type: volume
              Value: 222
          Titles:
            – TitleFull: Neurobiology of disease
              Type: main
ResultId 1